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The missing or altered X chromosome of Turner syndrome causes errors during fetal development and other developmental problems after birth â short stature, ovarian failure and learning disabilities. Physical characteristics and health complications that arise from the chromosomal error vary greatly.
About half of all instances of Turner syndrome result from full monosomy X. Others have a mosaic pattern (two or more chromosome patterns in the cells). A small percentage of instances of Turner syndrome result from having the normal number of chromosomes (46 total), but missing a portion of the X chromosome. When only part of an X chromosome is missing (called a deletion), not all of it, girls with Turner syndrome usually have milder features of the syndrome. The features of Turner syndrome that are present depend on which part of the X chromosome they are missing.